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Refinado por: Nome da Publicação: Human Molecular Genetics remover assunto: Science & Technology remover
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Genetics of CD33 in Alzheimer's disease and acute myeloid leukemia
Genetics of CD33 in Alzheimer's disease and acute myeloid leukemia
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Genetics of CD33 in Alzheimer's disease and acute myeloid leukemia

Malik, Manasi ; Chiles, 3rd, Joe ; Xi, Hualin S ; Medway, Christopher ; Simpson, James ; Potluri, Shobha ; Howard, Dianna ; Liang, Ying ; Paumi, Christian M ; Mukherjee, Shubhabrata ; Crane, Paul ; Younkin, Steven ; Fardo, David W ; Estus, Steven

Human molecular genetics, 2015-06, Vol.24 (12), p.3557-3570 [Periódico revisado por pares]

England: Oxford University Press

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2
Methylome-wide association study of early life stressors and adult mental health
Methylome-wide association study of early life stressors and adult mental health
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Methylome-wide association study of early life stressors and adult mental health

Howard, David M ; Pain, Oliver ; Arathimos, Ryan ; Barbu, Miruna C ; Amador, Carmen ; Walker, Rosie M ; Jermy, Bradley ; Adams, Mark J ; Deary, Ian J ; Porteous, David ; Campbell, Archie ; Sullivan, Patrick F ; Evans, Kathryn L ; Arseneault, Louise ; Wray, Naomi R ; Meaney, Michael ; McIntosh, Andrew M ; Lewis, Cathryn M

Human molecular genetics, 2022-02, Vol.31 (4), p.651-664 [Periódico revisado por pares]

England: Oxford University Press

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3
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Liu, Ning ; Schoch, Kelly ; Luo, Xi ; Pena, Loren D M ; Bhavana, Venkata Hemanjani ; Kukolich, Mary K ; Stringer, Sarah ; Powis, Zöe ; Radtke, Kelly ; Mroske, Cameron ; Deak, Kristen L ; McDonald, Marie T ; McConkie-Rosell, Allyn ; Markert, M Louise ; Kranz, Peter G ; Stong, Nicholas ; Need, Anna C ; Bick, David ; Amaral, Michelle D ; Worthey, Elizabeth A ; Levy, Shawn ; Wangler, Michael F ; Bellen, Hugo J ; Shashi, Vandana ; Yamamoto, Shinya

Human molecular genetics, 2018-07, Vol.27 (14), p.2454-2465 [Periódico revisado por pares]

England: Oxford University Press

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4
A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome
A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome
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A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

Samaco, Rodney C. ; Fryer, John D. ; Ren, Jun ; Fyffe, Sharyl ; Chao, Hsiao-Tuan ; Sun, Yaling ; Greer, John J. ; Zoghbi, Huda Y. ; Neul, Jeffrey L.

Human molecular genetics, 2008-06, Vol.17 (12), p.1718-1727 [Periódico revisado por pares]

Oxford: Oxford University Press

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5
Influence of prenatal EGCG treatment and Dyrk1a dosage reduction on craniofacial features associated with Down syndrome
Influence of prenatal EGCG treatment and Dyrk1a dosage reduction on craniofacial features associated with Down syndrome
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Influence of prenatal EGCG treatment and Dyrk1a dosage reduction on craniofacial features associated with Down syndrome

McElyea, Samantha D ; Starbuck, John M ; Tumbleson-Brink, Danika M ; Harrington, Emily ; Blazek, Joshua D ; Ghoneima, Ahmed ; Kula, Katherine ; Roper, Randall J

Human molecular genetics, 2016-11, Vol.25 (22), p.4856-4869 [Periódico revisado por pares]

England: Oxford University Press

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6
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)
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Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

Korvatska, Olena ; Strand, Nicholas S ; Berndt, Jason D ; Strovas, Tim ; Chen, Dong-Hui ; Leverenz, James B ; Kiianitsa, Konstantin ; Mata, Ignacio F ; Karakoc, Emre ; Greenup, J Lynne ; Bonkowski, Emily ; Chuang, Joseph ; Moon, Randall T ; Eichler, Evan E ; Nickerson, Deborah A ; Zabetian, Cyrus P ; Kraemer, Brian C ; Bird, Thomas D ; Raskind, Wendy H

Human molecular genetics, 2013-08, Vol.22 (16), p.3259-3268 [Periódico revisado por pares]

England: Oxford University Press

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7
Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome
Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome
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Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome

Wang, Jen C. ; Hinrichs, Anthony L. ; Stock, Heather ; Budde, John ; Allen, Rebecca ; Bertelsen, Sarah ; Kwon, Jennifer M. ; Wu, William ; Dick, Danielle M. ; Rice, John ; Jones, Kevin ; Nurnberger, John I. ; Tischfield, Jay ; Porjesz, Bernice ; Edenberg, Howard J. ; Hesselbrock, Victor ; Crowe, Ray ; Schuckit, Mark ; Begleiter, Henri ; Reich, Theodore ; Goate, Alison M. ; Bierut, Laura J.

Human molecular genetics, 2004-09, Vol.13 (17), p.1903-1911 [Periódico revisado por pares]

Oxford: Oxford University Press

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8
Results of a high-resolution genome screen of 437 Alzheimer's Disease families
Results of a high-resolution genome screen of 437 Alzheimer's Disease families
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Results of a high-resolution genome screen of 437 Alzheimer's Disease families

Blacker, Deborah ; Bertram, Lars ; Saunders, Aleister J. ; Moscarillo, Thomas J. ; Albert, Marilyn S. ; Wiener, Howard ; Perry, Rodney T. ; Collins, Julianne S. ; Harrell, Lindy E. ; Go, Rodney C.P. ; Mahoney, Amy ; Beaty, Terri ; Fallin, M. Danielle ; Avramopoulos, Dimitrios ; Chase, Gary A. ; Folstein, Marshal F. ; McInnis, Melvin G. ; Bassett, Susan S. ; Doheny, Kimberly J. ; Pugh, Elizabeth W. ; Tanzi, Rudolph E.

Human molecular genetics, 2003-01, Vol.12 (1), p.23-32 [Periódico revisado por pares]

Oxford: Oxford University Press

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9
Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis
Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis
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Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis

Edenberg, Howard J. ; Xuei, Xiaoling ; Chen, Hui-Ju ; Tian, Huijun ; Wetherill, Leah Flury ; Dick, Danielle M. ; Almasy, Laura ; Bierut, Laura ; Bucholz, Kathleen K. ; Goate, Alison ; Hesselbrock, Victor ; Kuperman, Samuel ; Nurnberger, John ; Porjesz, Bernice ; Rice, John ; Schuckit, Marc ; Tischfield, Jay ; Begleiter, Henri ; Foroud, Tatiana

Human molecular genetics, 2006-05, Vol.15 (9), p.1539-1549 [Periódico revisado por pares]

Oxford: Oxford University Press

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10
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty
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Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty

Godler, David E ; Inaba, Yoshimi ; Shi, Elva Z ; Skinner, Cindy ; Bui, Quang M ; Francis, David ; Amor, David J ; Hopper, John L ; Loesch, Danuta Z ; Hagerman, Randi J ; Schwartz, Charles E ; Slater, Howard R

Human molecular genetics, 2013-04, Vol.22 (8), p.1516-1524 [Periódico revisado por pares]

England: Oxford University Press

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